Main data
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Molecular genetics
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Lab findings
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Symptoms
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Diet/drugs
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Therapy/development
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References
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Disease information
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Gene information
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Pathway information
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Substance information
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 Data management
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| Patient ID |
590 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
m |
| Age of symptoms onset |
15 Month(s) |
| Age of diagnosis |
21.52 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
First symptoms (severe vomiting, apathia) at the age of 15 months. At 21 months of age, the infant was hospitalized in the state of coma. Highly elevated levels of orotic acid led to the diagnosis of ornithine transcarbamylase deficiency, which was confirmed by detection of a residual OTC-activity of 8 % in liver cells (Prof. Colombo, Bern, Switzerland).
Treatment with protein-restricted diet, sodium benzoate, arginine-HCl and carnitine. Decompensations during infections with increased ammonia levels, but without apathia.
Retardation of psycho-intellectual development (1993; 2002). The boy is small for age and suffers from considerable obesity (May 2002). IQ of 69 (Sept. 2002). |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2002-05-31 12:05:42 |
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